Paediatric bilateral adrenal phaeochromocytomas in association with a novel mutation in the von Hippel Lindau gene.
Functional phaeochromocytoma and paraganglioma are rare in children and adolescents. We report a 12-year-old male with bilateral phaeochromocytoma in whom germ line testing identified a novel mutation in the von Hippel Lindau gene. Early age of onset, bilateral phaeochromocytoma and other clinical features should prompt germ line DNA testing for mutations in genes associated with familial phaeochromocytoma and paraganglioma syndromes.
Kim
Leo
L
Department of Academic Surgery, The Children's Hospital at Westmead and The University of Sydney, Sydney, Australia.
Holland
Andrew J A
AJ
Srinivasan
Shubha
S
Cowell
Chris T
CT
Benn
Dindy E
DE
Robinson
Bruce G
BG
D002648:Child; D005091:Exons / Q000235:genetics; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D008297:Male; D010673:Pheochromocytoma / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D006623:von Hippel-Lindau Disease / Q000235:genetics*